First human trial of TS1-ASO aims to tame rare genetic brain disorder
NCT ID NCT07600658
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This first-in-human trial tests a genetic drug called TS1-ASO in 5 children with Timothy Syndrome, a rare condition causing severe heart and brain problems. The drug is injected into the spine to target the genetic root of the disease. The main goal is to check safety and how the drug moves in the body, with early signs of whether it might help development and seizures.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- TS1-ASO (a genetic drug called an antisense oligonucleotide)
- What this could lead to
- If it works, this could point toward a treatment that prevents or eases severe developmental and seizure symptoms in children with Timothy Syndrome.
- What could go wrong
- This is a very early, tiny trial (only 5 participants) with no comparison group. The drug is injected into the spine, which carries risks like infection or nerve damage, and it may not improve symptoms at all.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Phase 1/2
Runs two stages together: safety and dose first, then whether the treatment works.
- Participants
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About 5 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Sep 2026
An estimate. Start dates often move.
- Expected to finish
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Dec 2030
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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2 months and older
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Confirmed CACNA1C c.1216 G\>A, p.G406R variant in exon 8A (TS1) on exome or genome testing. * Age \> 2 months. Given that neurodevelopmental symptoms start early in TS1 and treatment is predicted to more effectively prevent rather than rescue developmental delay, ASD, and epilepsy, the Sponsor proposes that early treatment is most likely to yield clinical benefit. Exclusion Criteria: * Critical illness including cardiac arrhythmia that is unstable, invasive ventilatory support, sustained hypoglycemia, or active infection. * Diagnosis of a secondary genetic disorder in addition to TS1. * Hypoxic-ischemic injury to \>25% of the brain from prior cardiac arrest. * Age \> 5 years old with absence of any neurologic, developmental, or psychiatric diagnoses, or symptoms on physical exam and intake assessment scales as there would unlikely be a benefit to treatment in the setting of normal cognition and development and lack of epilepsy or other neuropsychiatric diagnoses. * Inability to complete required procedures including anesthesia, magnetic resonance imaging brain, and lumbar puncture (LP). * Participation in another investigational trial within the 90 days prior to first dose, including any gene therapy within the participant's lifetime.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Stanford University
Stanford, California, 94305, United States
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Other studies related to the condition(s) this trial covers.